R53L (p.Arg53Leu) variant of CHRNA4 (P43681)
R53L (p.Arg53Leu) in CHRNA4 (P43681) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial sleep-related hypermotor epilepsy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data.
R53L (p.Arg53Leu) variant details
- p.Arg53Leu
- TOPMed rs1286318558
- gnomAD rs1286318558
- Uncertain significance
- Familial sleep-related hypermotor epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- REVEL 0.73
- CADD 28.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Familial sleep-related hypermotor epilepsy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available